Canonical Allele Identifier: CA479241380

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745430T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351628T>C , CM000674.2:g.40351628T>C	GRCh38
NC_000012.11:g.40745430T>C , CM000674.1:g.40745430T>C	GRCh37
NC_000012.10:g.39031697T>C	NCBI36
NG_011709.1:g.131618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6471T>C MANE Select	ENSP00000298910.7:p.Ala2157=
ENST00000636518.1:c.268T>C
ENST00000679360.1:c.*5380T>C	ENSP00000505368.1:n.*5380T>C
ENST00000679532.1:c.2245T>C
ENST00000679683.1:c.261T>C
ENST00000680018.1:c.1916T>C	ENSP00000505347.1:n.1916T>C
ENST00000680422.1:c.2116T>C
ENST00000680425.1:c.1638T>C	ENSP00000506459.1:n.1638T>C
ENST00000680453.1:c.1928T>C
ENST00000680790.1:c.6216T>C	ENSP00000505335.1:p.Ala2072=
ENST00000681136.1:n.2455T>C
ENST00000681696.1:c.2154T>C	ENSP00000505871.1:p.Ala718=
ENST00000298910.11:c.6471T>C	ENSP00000298910.7:p.Ala2157=
ENST00000430804.5:c.3767T>C
ENST00000479187.5:n.3152T>C
NM_198578.3:c.6471T>C	NP_940980.3:p.Ala2157=
XM_005268629.2:c.6471T>C	XP_005268686.1:p.Ala2157=
XM_011537877.1:c.6471T>C	XP_011536179.1:p.Ala2157=
XM_011537878.1:c.6471T>C	XP_011536180.1:p.Ala2157=
XM_011537879.1:c.5268T>C	XP_011536181.1:p.Ala1756=
XM_005268629.4:c.6471T>C	XP_005268686.1:p.Ala2157=
XM_011537877.3:c.6471T>C	XP_011536179.1:p.Ala2157=
XM_017018787.1:c.3387T>C	XP_016874276.1:p.Ala1129=
XM_017018788.2:c.2733T>C	XP_016874277.1:p.Ala911=
XM_024448833.1:c.5268T>C	XP_024304601.1:p.Ala1756=
NM_198578.4:c.6471T>C MANE Select	NP_940980.4:p.Ala2157=